Variant report

Variant	rs73775611
Chromosome Location	chr5:100094598-100094599
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17158972	1.00[AMR][1000 genomes]
rs56359028	1.00[AMR][1000 genomes]
rs6860734	1.00[AMR][1000 genomes]
rs6889670	1.00[AMR][1000 genomes]
rs73775612	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775614	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73775616	1.00[AMR][1000 genomes]
rs73775617	1.00[AMR][1000 genomes]
rs73775636	1.00[AMR][1000 genomes]
rs9763599	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948969	chr5:99534096-100133827	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1021183	chr5:99625857-100221426	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1017420	chr5:99745775-100133140	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv537825	chr5:99745775-100133140	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv1023765	chr5:99915011-100733755	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv882467	chr5:99952282-100100157	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv882470	chr5:100018392-100100157	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2762532	chr5:100041758-100136552	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv462319	chr5:100060150-100100157	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv599175	chr5:100060150-100100157	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100092000-100096400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:100092400-100094800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:100092600-100094600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:100092800-100094600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:100093000-100094600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr5:100093000-100094600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr5:100093800-100094600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
8	chr5:100093800-100094800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr5:100093800-100094800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr5:100093800-100095200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr5:100094000-100094800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:100094200-100094600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:100094200-100094800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr5:100094400-100094600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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